Maple syrup urine disease: Role of diffusion-weighted magnetic resonance imaging

Abstract

Maple syrup urine disease (MSUD)/leucine encephalopathy is an inborn error of amino acid metabolism resulting in neurotransmitter depletion, disrupted brain growth and development. Magnetic resonance (MR) with diffusion-weighted imaging is the best imaging tool during hyperacute and acute phases. We report a case of a child who was presented with global developmental delay and foul smelling of urine and diagnosed as MSUD with typical MR imaging findings and laboratory findings.